All Phenotypes Hnf1b<tm1Sce> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hnf1b^tm1Sce/Hnf1b^tm1Sce	either: (involves: 129P2/OlaHsd) or (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * C57BL/6J * DBA/2)	MGI:2672789
cn2	Hnf1b^tm1Ics/Hnf1b^tm1Sce Wnt4^{tm2(EGFP/cre)Svo}/Wnt4⁺	involves: 129P2/OlaHsd	MGI:5471840
cn3	Hnf1b^tm1Sce/Hnf1b⁺ Wnt4^{tm2(EGFP/cre)Svo}/Wnt4⁺	involves: 129P2/OlaHsd	MGI:5471842

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:58079 )

• homozygotes are viable until the blastocyst stage (E3.5) but die upon implantation and before gastrulation

• mutant embryos are fully resorbed by E6.5

embryo

abnormal developmental patterning ( J:58079 )

abnormal ectoderm development ( J:58079 )

• at E6.0, presumptive mutant embryos exhibit highly disorganized ectoderm cells

embryonic growth arrest ( J:58079 )

• at E5.5, presumptive mutant embryos have initiated a uterine reaction but resemble implanting blastocysts that are about to collapse

embryonic growth retardation ( J:58079 )

• at E5.5, presumptive mutant embryos are growth retarded

decreased embryo size ( J:58079 )

• at E5.5, presumptive mutant embryos are abnormally small and round

abnormal embryonic tissue morphology ( J:58079 )

abnormal embryonic epiblast morphology ( J:58079 )

abnormal primitive endoderm morphology ( J:58079 )

• at E5.5, mutant embryos contain parietal endoderm-like cells, suggesting that primitive endoderm primarily fails to differentiate into visceral endoderm

abnormal inner cell mass morphology ( J:58079 )

• in vitro, mutant blastocysts are able to form an ICM and trophoblast cell layer outgrowths; however, further differentiation of ICM is curtailed and visceral endoderm differentiation fails

abnormal extraembryonic tissue morphology ( J:58079 )

• at E6.0, presumptive mutant embryos lack an identifiable extraembryonic tissue

absent ectoplacental cavity ( J:58079 )

• at E6.0, presumptive mutant embryos lack ectoplacental cavities

absent parietal endoderm ( J:58079 )

• at E6.0, presumptive mutant embryos lack a visible parietal endoderm cell layer

absent proamniotic cavity ( J:58079 )

• at E6.0, presumptive mutant embryos lack proamniotic cavities

absent visceral endoderm ( J:58079 )

• at E6.0, presumptive mutant embryos lack a visible visceral endoderm cell layer

growth/size/body

embryonic growth retardation ( J:58079 )

• at E5.5, presumptive mutant embryos are growth retarded

decreased embryo size ( J:58079 )

• at E5.5, presumptive mutant embryos are abnormally small and round

Allelic Composition	Hnf1b^tm1Ics/Hnf1b^tm1Sce Wnt4^{tm2(EGFP/cre)Svo}/Wnt4⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hnf1b^tm1Ics mutation (0 available); any Hnf1b mutation (16 available)
Hnf1b^tm1Sce mutation (2 available); any Hnf1b mutation (16 available)
Wnt4^{tm2(EGFP/cre)Svo} mutation (1 available); any Wnt4 mutation (20 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

postnatal lethality, complete penetrance ( J:194051 )

• die within the first 2 days after birth

renal/urinary system

abnormal kidney morphology ( J:194051 )

• higher density of mature glomeruli in the medulla region compared to the periphery unlike in controls

renal glomerulus cyst ( J:194051 )

• 12-16% of glomeruli become cystic

abnormal metanephros morphology ( J:194051 )

• expression analysis indicates a defect in proximal and intermediate regions of the S-shaped bodies development during tubule development

• S-shaped bodies appear less convoluted

• decrease in proliferation in comma-shaped bodies and a stronger decrease in the future proximal tubule of S-shaped bodies at E16.5

• increase in apoptosis in kidney epithelium but not stroma at E16.5

• strong increase in apoptosis in late mutant nephron tubules and a more moderate increase in S-shaped bodies

hydronephrosis ( J:194051 )

• occasional

abnormal renal tubule morphology ( J:194051 )

• decrease in tubular structures

• reduction of 43.5% in mature glomeruli mutant kidneys

• higher density of mature glomeruli in the medulla region compared to the periphery unlike in controls

abnormal loop of Henle morphology ( J:194051 )

• medullar elongated loop of Henle tubules are not visible at P0

abnormal proximal convoluted tubule morphology ( J:194051 )

• not visible at P0

growth/size/body

renal glomerulus cyst ( J:194051 )

• 12-16% of glomeruli become cystic

Allelic Composition	Hnf1b^tm1Sce/Hnf1b⁺ Wnt4^{tm2(EGFP/cre)Svo}/Wnt4⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hnf1b^tm1Sce mutation (2 available); any Hnf1b mutation (16 available)
Wnt4^{tm2(EGFP/cre)Svo} mutation (1 available); any Wnt4 mutation (20 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

renal/urinary system

renal/urinary system phenotype ( J:194051 )

N	• glomerular cysts and enlarged tubules are not seen, unlike in mice heterozygous for Hnf1b^tm1Ics and Wnt4^{tm2(EGFP/cre)Svo}

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